Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

American Journal of Human Genetics

Volumn 98, Issue 4, 2016, Pages 597-614

  Rebelo, Adriana P ^a   Abrams, Alexander J ^a   Cottenie, Ellen ^b   Horga, Alejandro ^b   Gonzalez, Michael ^a   Bis, Dana M ^a   Sanchez Mejias, Avencia ^a   Pinto, Milena ^a   Buglo, Elena ^a   Markel, Kasey ^c   Prince, Jeffrey ^c   Laura, Matilde ^b   Houlden, Henry ^b   Blake, Julian ^b,d   Woodward, Cathy ^b   Sweeney, Mary G ^b   Holton, Janice L ^b   Hanna, Michael ^b   Dallman, Julia E ^c   Auer Grumbach, Michaela ^e   Reilly, Mary M ^b   Zuchner, Stephan ^a   more..

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c University of Miami   (United States)

^d NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^e MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CREATINE KINASE; FUSED IN SARCOMA PROTEIN; LACTIC ACID; NEFH PROTEIN; NEFL PROTEIN; PROTEIN; UNCLASSIFIED DRUG; 3' UNTRANSLATED REGION;

3' UNTRANSLATED REGION; ADULT; AGED; AMINO ACID SEQUENCE; ANTERIOR HORN CELL; ARTICLE; AXONAL NEUROPATHY; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ELECTROMYOGRAPHY; EMBRYO; EXOME; EXON; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENETIC TRANSFECTION; HUMAN; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; LACTATE BLOOD LEVEL; LOWER LIMB; MALE; MEDIAN NERVE; MIDDLE AGED; MISSENSE MUTATION; MOTONEURON; MUSCLE ATROPHY; NERVE CONDUCTION VELOCITY; NEUROFILAMENT; NEUROPATHY; NONHUMAN; PERONEUS NERVE; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROTEIN AGGREGATION; RADIAL NERVE; STOP CODON; SURAL NERVE; TIBIAL NERVE; TRANSMISSION ELECTRON MICROSCOPY; ULNAR NERVE; UPPER LIMB; WESTERN BLOTTING; YOUNG ADULT; ZEBRA FISH; AMYOTROPHIC LATERAL SCLEROSIS; ANIMAL; AXON; CELL LINE; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; INTERMEDIATE FILAMENT; METABOLISM; MOLECULAR GENETICS; MOUSE; MUTATION; PATHOLOGY; PEDIGREE;

3' UNTRANSLATED REGIONS; AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; AXONS; CELL LINE; CHARCOT-MARIE-TOOTH DISEASE; FRAMESHIFT MUTATION; HUMANS; INTERMEDIATE FILAMENTS; MICE; MOLECULAR SEQUENCE DATA; MOTOR NEURONS; MUTATION; PEDIGREE; ZEBRAFISH;

EID: 84962050331     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.02.022     Document Type: Article

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